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Previous studies reported that the hepatitis C virus (HCV) could help disseminate the hepatitis D virus (HDV) in vivo through hepatitis B virus (HBV)-unrelated ways, but with essentially inconclusive results. To try to shed light on this still-debated topic, 146 anti-HCV-positive subjects (of whom 91 HCV/HIV co-infected, and 43 with prior HCV eradication) were screened for anti-HDV antibodies (anti-HD), after careful selection for negativity to any serologic or virologic marker of current or past HBV infection. One single HCV/HIV co-infected patient (0.7%) tested highly positive for anti-HD, but with no positive HDV-RNA. Her husband, in turn, was a HCV/HIV co-infected subject with a previous contact with HBV. While conducting a thorough review of the relevant literature, the authors attempted to exhaustively describe the medical history of both the anti-HD-positive patient and her partner, believing it to be the key to dissecting the possible complex mechanisms of HDV transmission from one subject to another, and speculating that in the present case, it may have been HCV itself that behaved as an HDV helper virus. In conclusion, this preliminary research, while needing further validation in large prospective studies, provided some further evidence of a role of HCV in HDV dissemination in humans.

This retrospective study aimed to assess the relationship between standard markers of embryo morphology, maternal age and blastocyst ploidy determined by trophectoderm (TE) biopsy and Next-generation Sequencing (NGS). A total of 774 oocytes and embryos from 288 PGT-A cycles were scored for pronuclear, cleavage stage and blastocyst morphology. Pronuclear oocytes aligned between the nuclei and presenting equal number of nucleolus precursor bodies (NPBs) were designated Z1, oocytes showing equal number of NPBs, but not aligned, as Z2 while Z3 oocytes had an unequal number of NBPs between the nuclei or NPBs aligned in one nucleus and non-aligned in the other. Pronuclear oocytes with unequal-sized or non-aligned nuclei were designated Z4. Blastocysts were graded as BL1 (AA, AB or BA), BL2 (BB or CB) and BL3 (BC or CC) based on the combination of inner cell mass (ICM) and TE scores. Pronuclear and blastocyst morphology were correlated with aneuploidy in a < 40-year-old group ( p  < 0.01 and p  < 0.05, respectively), but not in those ≥40 years. Interestingly, BL3 blastocysts classified as Z1 or Z3-Z4 on day-1 had different aneuploidy rates (BL3/Z1 = 46.7% vs. BL3/Z3-Z4 = 90.0%, p  < 0.05). In summary, our data showed that pronuclear and blastocyst morphology are associated with blastocyst ploidy in younger patients. This may help embryo selection for embryo transfer and decision-making on which blastocysts should be biopsied in PGT-A cycles.

Non-invasive preimplantation genetic testing for aneuploidies (niPGT-A) aiming to assess cell-free embryonic DNA in spent culture media is promising, especially because it might overcome the diminished rates of implantation caused by the inadequate performance of trophectoderm (TE) biopsy. Our center is part of the largest study to date assessing the concordance between conventional PGT-A and niPGT-A, and we report here the delivery of the first baby born in Brazil using niPGT-A. The parents of the baby were admitted to our center in 2018. They did not present history of infertility, and they were interested in using in vitro fertilization (IVF) and PGT-A in order to avoid congenital anomalies in the offspring. A total of 11 (3 day-5 and 8 day-6) expanded blastocysts were biopsied, and the spent culture media (culture from day-4 to day-6) from 8 day-6 blastocysts were collected for niPGT-A. Overall, 7 embryos yielded informative results for trophectoderm (TE) and media samples. Among the embryos with informative results, 5 presented concordant diagnosis between conventional PGT-A and niPGT-A, and 2 presented discordant diagnosis (1 false-positive and one false-negative). The Blastocyst 4, diagnosed as 46, XY by both niPGT-A and conventional PGT-A, was warmed up and transferred, resulting in the birth of a healthy 3.8 kg boy in February 2020. Based on our results and the recent literature, we believe that the safest current application of niPGT-A would be as a method of embryo selection for patients without an indication for conventional PGT-A. The approximate 80% of reliability of niPGT-A in the diagnosis of ploidy is superior to predictions provided by other non-invasive approaches like morphology and morphokinetics selection., Competing Interests: The authors have no conflict of interests to declare., (Federação Brasileira de Ginecologia e Obstetrícia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/).)

Purpose: To determine whether blastocyst morphology has an impact on sex proportion at pre-implantation and birth in PGT-A and non-PGT-A cycles., Methods: A total of 1254 biopsied blastocysts from 466 PGT-A cycles were analyzed for sex proportion, day of biopsy, degree of expansion, inner cell mass (ICM), and trophectoderm (TE) morphology. From these, 197 frozen single embryo transfers (SET) were assessed for clinical outcomes and sex proportion of ongoing pregnancies and deliveries. In addition, we evaluated the day of vitrification/embryo transfer, degree of expansion, and TE morphology in a group of 229 births (217 cycles) from frozen or fresh transfers of non-biopsied blastocysts., Results: Sex proportion was impacted by day of biopsy and TE morphology, but not by ICM morphology, in PGT-A cycles. Therefore, biopsy on day 5 and TE "A" shifted the sex proportion towards males. Interestingly, we noted that our morphology-based embryo selection for SET of euploid blastocysts has favored the choice for XY embryos, generating a 54.3% XY proportion at transfer and 56.1% XY proportion at ongoing pregnancy/delivery. Our models indicate a weaker association between blastocyst morphology parameters and sex proportion of babies in non-PGT-A cycles., Conclusion: Blastocyst features associated with a skewed sex proportion towards XY embryos, such as biopsy on day 5 and top quality TE, are also parameters used for selecting euploid embryos for SET. Therefore, our data suggest that morphology-based embryo selection represents a strong factor responsible for a skewed male sex proportion at birth in PGT-A cycles., (© 2021. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Introduction: Patients with complex care needs (PCCNs) often suffer from combinations of multiple chronic conditions, mental health problems, drug interactions and social vulnerability, which can lead to healthcare services overuse, underuse or misuse. Typically, PCCNs face interactional issues and unmet decisional needs regarding possible options in a cascade of interrelated decisions involving different stakeholders (themselves, their families, their caregivers, their healthcare practitioners). Gaps in knowledge, values clarification and social support in situations where options need to be deliberated hamper effective decision support interventions. This review aims to (1) assess decisional needs of PCCNs from the perspective of stakeholders, (2) build a taxonomy of these decisional needs and (3) prioritise decisional needs with knowledge users (clinicians, patients and managers)., Methods and Analysis: This review will be based on the interprofessional shared decision making (IP-SDM) model and the Ottawa Decision Support Framework. Applying a participatory research approach, we will identify potentially relevant studies through a comprehensive literature search; select relevant ones using eligibility criteria inspired from our previous scoping review on PCCNs; appraise quality using the Mixed Methods Appraisal Tool; conduct a three-step synthesis (sequential exploratory mixed methods design) to build taxonomy of key decisional needs; and integrate these results with those of a parallel PCCNs' qualitative decisional need assessment (semistructured interviews and focus group with stakeholders)., Ethics and Dissemination: This systematic review, together with the qualitative study (approved by the Centre Intégré Universitaire de Santé et Service Sociaux du Saguenay-Lac-Saint-Jean ethical committee), will produce a working taxonomy of key decisional needs (ontological contribution), to inform the subsequent user-centred design of a support tool for addressing PCCNs' decisional needs (practical contribution). We will adapt the IP-SDM model, normally dealing with a single decision, for PCCNs who experience cascade of decisions involving different stakeholders (theoretical contribution). Knowledge users will facilitate dissemination of the results in the Canadian primary care network., Prospero Registration Number: CRD42015020558., Competing Interests: Competing interests: None declared., (© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.)

Objective: Visual contrast stimulation evokes in man an oscillatory mass response at approximately 20.0-35.0 Hz, consistent with stimulus-dependent synchronous oscillations in multiunit animal recordings from visual cortex, but shorter in duration and phase-locked to stimulus. A factor analysis was applied to characterize the signal structure under stimulus conditions inducing an oscillatory response and to identify possible subcomponents in normal volunteers., Methods: Contrast stimuli were gratings with a sinusoidal luminance profile (9.0 degrees; 5.0 cycle/degree; 80% contrast; reversal 1.06 Hz). The amplitude spectrum of the signal was computed by Discrete Fourier Transform (DFT) and the oscillatory response was separated from the corresponding visually evoked potential (VEP) by DFT high-pass filter at 19.0 Hz. Nine consecutive waves were identified in all subjects (60 volunteers), with amplitudes/latencies consistent with normative studies. A factor analysis was computed 1- in the frequency domain, on the amplitude values of the signal components (2 Hz resolution), and 2- in the time domain, on the latencies/amplitudes of the averaged VEP and oscillatory responses., Results: (1) Two non-overlapping factors accounted for the approximately 2-20.0 and approximately 20.0-40.0 Hz signal components, with separation of the approximately 20.0-35.0 Hz oscillatory response from low frequency VEPs. (2) Two factors on latencies and one factor on amplitudes (independent of each other and from those of VEPs) accounted for the average approximately 20.0-35.0 Hz oscillatory response., Conclusions: The factor structure further indicates an oscillatory structure and some independence from conventional VEPs of the human oscillatory response to contrast, with a separation between the oscillatory response early and late waves possibly reflecting functional differences.

Synaptic neural (and neural system) functions are peculiarly sensitive to neuroactive compounds. Pharmacological interference/modulation is readily reflected by modifications in the organization of central nervous system (CNS), electrophysiologic signals occurring spontaneously in response to sensory stimulation (stimulus-related or evoked responses) or elicited in conjunction with sensory, motor or cognitive events (event-related potentials). Evoked responses reflect the basic physiology of sensory processes, while event-related potentials combine the time/space resolution of electrophysiologic signals with the specificity of eliciting neuropsychological conditions. The rationale for investigating drug effects on evoked and event-related potentials is manifold. Both are related to sensory and operant behavior and under suitable experimental conditions allow interpretation of drug-related changes in terms of CNS excitability. Some continuity between observations in man and in vivo or in vitro animal data is often possible. Proper handling of the stimulus physical properties or experimental/situational links may allow the responses to be related to sensory input or to neuropsychological manipulation of selectively activated CNS functions or functional subsystems and therefore to control spontaneous variability. This review summarizes today's knowledge of the application of electrophysiology to human neuropharmacology, with due reference to basic pharmacology and experimental evidence.

We report on 2 patients with mental retardation and bullous dystrophy, macular type. The observation of the condition in a male and his maternal uncle is consistent with recessive X-linkage. Due to the rarity of the condition, nosologic definition was difficult before the birth of the propositus. The clinical picture in the two patients described, characterized by mental retardation, dwarfism, microcephaly, alopecia, bullous dystrophy macular type, hypogenitalism, is very much like the one observed in the patients, all males, belonging to the only other family reported to date. The recent localization of the bullous dystrophy gene in the Xq24-qter segment opens the possibility of prenatal diagnosis.

The Authors report a new family with spondylo-costal dysplasia in which three members in three generation are affected. The genetic heterogeneity of the condition and its implication in genetic counseling is discussed.

We report on a 3-year-old girl with hypomelanosis of Ito (HI). She has typical skin lesions and mild CNS involvement characterized by impaired walking and borderline mental retardation. Cytogenetic investigation showed a 18/X translocation with breakpoint on Xp11. This is the sixth case of HI in which this breakpoint has been reported, underlining that this event cannot be considered coincidental. Further studies are needed to understand the etiologic and pathogenetic meaning of this finding.